ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.170C>T (p.Ala57Val)

dbSNP: rs756635006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992983 SCV002236087 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-10-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 57 of the DSG2 protein (p.Ala57Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Color Diagnostics, LLC DBA Color Health RCV003533078 SCV004363157 uncertain significance Cardiomyopathy 2023-09-13 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 57 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004010982 SCV004819421 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2023-10-02 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 57 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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